A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.     

中医学视角下城市物质空间的生命要素探析

通过借鉴中医学整体观和生命观的相关理论,从认识城市有机体的生命属性入手,发现并提炼能够产生和传递城市运营所需各种能量的生命要素:廊道和功能体。阐释了其多层级、多性质和多形态的特点,提出了功能体有动力、廊道成系统、敏感点有活力的疏通策略,旨在促进城市各种能量的有机循环,从而维护城市的健康与安全,提高城市生活的效率与质量。     

高温氢工质热物理性质计算分析

氢工质在新能源与动力、航天推进、化工材料等领域有着广泛应用。通过开展高温氢工质热力学与输运性质研究，建立了原子态氢、分子态氢、热解平衡态氢的热物理性质计算模型，开发了热物性计算程序Prop_H_H2，适用范围为温度100~3 500 K、压力104~5×107 Pa 。验证表明，Prop_H_H2在适用范围内计算氢工质的物性参数合理可靠，在温度200~3 000 K、压力104~107 Pa范围内，程序预测值更加准确，相对偏差在±5%左右。本研究可为氢工质相关的航天推进、应用物理学、能源动力等行业的科研和应用提供支持借鉴。     

Indoor solid fuel use for heating and cooking with blood pressure and hypertension: A cross-sectional study among middle-aged and older adults in China

A cross-sectional study was conducted to investigate the impact of solid fuel use for heating and cooking on blood pressure (BP) and hypertension, using data from the China Health and Retirement Longitudinal Study (CHARLS). The primary fuels used for indoor heating and cooking were collected by questionnaires, respectively. Hypertension was defined based on self-report of physician's diagnosis, and/or measured BP, and/or anti-hypertensive medication use. Multivariate logistic regression models were constructed to assess the associations. Among 10 450 eligible participants, 68.2% and 57.2% used indoor solid fuel for heating and cooking, respectively. Compared with none/clean fuel users, solid fuel for heating was associated with elevated BP (adjusted β: 2.02, 95% CI: 1.04–3.01 for systolic BP; adjusted β: 1.36, 95% CI: 0.78–1.94 for diastolic BP) and increased risk of hypertension (adjusted odds ratio: 1.15, 95% CI: 1.03–1.29). The impact of indoor solid fuel for heating on BP was more evident in rural and north residents, and hypertensive patients. We did not detect any significant associations between solid fuel use for cooking and BP/hypertension. Indoor solid fuel use is prevalent in China, especially in the rural areas. Its negative impact on BP suggested that modernization of household fuel use may help to reduce the burden of hypertension in China.     

M-estimator based Chinese Remainder Theorem with few remainders using a Kroenecker product based mapping vector

The Chinese Remainder Theorem (CRT) explains how to estimate an integer-valued number from the knowledge of the remainders obtained by dividing such unknown integer by co-prime integers. As an algebraic theorem, CRT is the basis for several techniques concerning data processing. For instance, considering a single-tone signal whose frequency value is above the sampling rate, the respective peak in the DFT informs the impinging frequency value modulo the sampling rate. CRT is nevertheless sensitive to errors in the remainders, and many efforts have been developed in order to improve its robustness. In this paper, we propose a technique to estimate real-valued numbers by means of CRT, employing for this goal a Kroenecker based M-Estimation (ME), specially suitable for CRT systems with low number of remainders. Since ME schemes are in general computationally expensive, we propose a mapping vector obtained via Kroenecker products which considerably reduces the computational complexity. Furthermore, our proposed technique enhances the probability of estimating an unknown number accurately even when the errors in the remainders surpass 1/4 of the greatest common divisor of all moduli. We also provide a version of the mapping vectors based on tensorial n-mode products, delivering in the end the same information of the original method. Our approach outperforms the state-of-the-art CRT methods not only in terms of percentage of successful estimations but also in terms of smaller average error.     

Epigenetic Targets for Oligonucleotide Therapies of Pulmonary Arterial Hypertension

Arterial wall remodeling underlies increased pulmonary vascular resistance and right heart failure in pulmonary arterial hypertension (PAH). None of the established vasodilator drug therapies for PAH prevents or reverse established arterial wall thickening, stiffening, and hypercontractility. Therefore, new approaches are needed to achieve long-acting prevention and reversal of occlusive pulmonary vascular remodeling. Several promising new drug classes are emerging from a better understanding of pulmonary vascular gene expression programs. In this review, potential epigenetic targets for small molecules and oligonucleotides will be described. Most are in preclinical studies aimed at modifying the growth of vascular wall cells in vitro or normalizing vascular remodeling in PAH animal models. Initial success with lung-directed delivery of oligonucleotides targeting microRNAs suggests other epigenetic mechanisms might also be suitable drug targets. Those targets include DNA methylation, proteins of the chromatin remodeling machinery, and long noncoding RNAs, all of which act as epigenetic regulators of vascular wall structure and function. The progress in testing small molecules and oligonucleotide-based drugs in PAH models is summarized.     

Sanitary legislation governing Food Services in Brazil

The Technical Regulation of Good Practices for Brazilian Food Services (Regulamento Técnico de Boas Práticas para Serviços de Alimentação do Brasil) can be complemented by sanitary surveillance agencies at the state, district and municipal levels by tailoring it to location-specific requirements. The purpose of the present study was to survey sanitary legislation governing Brazilian Food Services. During the period from November 2011 to November 2012, a survey was conducted with the sanitary surveillance agencies from the various states, capitals and the Federal District. A previously prepared and tested tool was used for data collection, comprising 10 questions. Only 10 (19.2%) of the sanitary codes had been established prior to RDC Resolution n° 216/2004 and were not complementary. Of the legislation cited as complementary, only the states of Santa Catarina, Rio Grande do Sul and São Paulo and the capital of the state of São Paulo truly presented additional and location-specific aspects. No legislation that was specific to hospital kitchens was found. The majority of participating coordination, including the Evaluation List for Good Practices in Food Services, was also verified; however, it had not been published. In conclusion, a gap in sanitary surveillance services exists, which was caused by the lack of location-specific food service regulations.     

Precipitating spinel into precursor glass and its assistance in crystallization

The crystallization phenomena of spinel in CaO-MgO-Al₂O₃-SiO₂-Fe₂O₃ glass have received much attention due to the particular role in preparation of glass-ceramic materials, which represent an effective option to manage hazardous waste. In this study, both preliminary spinel and secondary spinel were precipitated in the precursor glass. The formation of these spinel was meticulously assessed by a combination of X-ray diffractometry and scanning electron microscopy. The structure of the microenvironment in the precursor glass was characterized by Raman spectrums. These advanced techniques highlight the potential for one-step crystallization of the glass. The investigation, which focused on one-step crystallization, demonstrated the growth of pyroxene on spinel accompanying a migration of chromium. The results also show the microstructure of the obtained glass-ceramic was very dependent on the heat-treat temperature. This study not only unambiguously reveals the precipitation mechanisms of spinel but also provides more documentation for one-step crystallization in the glass-ceramics field.     

基于特征融合的中文简历解析方法研究

针对基于规则和统计的传统中文简历解析方法效率低、成本高、泛化能力差的缺点，提出一种基于特征融合的中文简历解析方法，即级联Word2Vec生成的词向量和用BLSTM（Bidirectional Long Short-Term Memory）建模字序列生成的词向量，然后再结合BLSTM和CRF（Conditional Random Fields）对中文简历进行解析（BLSTM-CRF）。为了提高中文简历解析的效率，级联包含字序列信息的词向量和用Word2Vec生成的词向量，融合成一个新的词向量表示；再由BLSTM强大的学习能力融合词的上下文信息，输出所有可能标签序列的分值给CRF层；再由CRF引入标签之间约束关系求解最优序列。利用梯度下降算法训练神经网络，使用预先训练的词向量和Dropout优化神经网络，最终完成对中文简历的解析工作。实验结果表明，所提的特征融合方法优于传统的简历解析方法。     

Zk线性码的对称形式的MacWilliams恒等式

该文定义了Zk线性码的码字的对称重量计数公式，利用离散的Hadamard变换，建立了线性码与其对偶码之间的对称形式的MacWilliams恒等式．